eMedicine Specialties > Ophthalmology > Phakomatoses

Ataxia-telangiectasia: Follow-up

Author: Andrew A Dahl, MD, Director of Ophthalmology Teaching, Mid-Hudson Family Practice Institute, The Institute for Family Health; Assistant Professor of Surgery (Ophthalmology), New York College of Medicine
Coauthor(s): Diego Calonje, MD, Consulting Staff, Department of Ophthalmology, Private Practice; Sherif M El-Harazi, MD, MPH, Consulting Staff, Department of Ophthalmology, Sherif El-Harazi, MD
Contributor Information and Disclosures

Updated: Nov 18, 2008

Follow-up

Further Outpatient Care

  • Respiratory infections should be monitored.
  • Physical therapy is indicated.

Complications

  • Recurrent pulmonary infections
  • Progressive ataxia results in the patient being wheelchair ridden
  • Death

Prognosis

  • More than 50% of patients with ataxia-telangiectasia die of recurrent respiratory infections, and many of the remainder develop malignancies, such as leukemia or lymphomas.

Patient Education

  • Children with ataxia-telangiectasia should have psychologic counseling as they age because of the great disparity between chronological age and mental age in tests involving visual motor coordination.

Miscellaneous

Medicolegal Pitfalls

  • Failure to recognize associated conditions, such as recurrent respiratory infections, lymphoma, and leukemia

Special Concerns

  • Careful evaluation of the eyes aids in establishing a diagnosis of ataxia-telangiectasia since conjunctival telangiectasia is eventually present in all the cases.
 


More on Ataxia-telangiectasia

Overview: Ataxia-telangiectasia
Differential Diagnoses & Workup: Ataxia-telangiectasia
Treatment & Medication: Ataxia-telangiectasia
Follow-up: Ataxia-telangiectasia
References
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References

  1. Boder E, Sedgwick RP. Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics. Apr 1958;21(4):526-54. [Medline].

  2. Albert DM, et al. Phakomatoses-Ataxia-Telangiectasia (Louis-Bar Syndrome). In: Principles and Practice of Ophthalmology Clinical Practice. Philadelphia: WB Saunders; 1994.

  3. Farr AK, Shalev B, Crawford TO, et al. Ocular manifestations of ataxia-telangiectasia. Am J Ophthalmol. Dec 2002;134(6):891-6. [Medline].

  4. Fireman P, et al. Ataxia-telangiectasia: a dysgammaglobulinemia with deficient Gamma 1A (B2A) Globulin. Lancet. 1964;1:1193-5.

  5. Gatti RA, Berkel I, Boder E, et al. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23. Nature. Dec 8 1988;336(6199):577-80. [Medline].

  6. Gatti RA, Boder E, Vinters HV, et al. Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis. Medicine (Baltimore). Mar 1991;70(2):99-117. [Medline].

  7. Harley RD, Baird HW, Craven EM. Ataxia-telangiectasia. Report of seven cases. Arch Ophthalmol. May 1967;77(5):582-92. [Medline].

  8. Karpati G, et al. Ataxia-telangiectasia. Am J Dis Child. 1965;110:51.

  9. Khan AO, Oystreck DT, Koenig M, et al. Ophthalmic features of ataxia telangiectasia-like disorder. J AAPOS. Apr 2008;12(2):186-9. [Medline].

  10. Lewis RF, Crawford TO. Slow target-directed eye movements in ataxia-telangiectasia. Invest Ophthalmol Vis Sci. Mar 2002;43(3):686-91. [Medline].

  11. Lewis RF, Lederman HM, Crawford TO. Ocular motor abnormalities in ataxia telangiectasia. Ann Neurol. Sep 1999;46(3):287-95. [Medline].

  12. Perlman S, Becker-Catania S, Gatti RA. Ataxia-telangiectasia: diagnosis and treatment. Semin Pediatr Neurol. Sep 2003;10(3):173-82. [Medline].

  13. Riise R, Ygge J, Lindman C, et al. Ocular findings in Norwegian patients with ataxia-telangiectasia: a 5 year prospective cohort study. Acta Ophthalmol Scand. Aug 2007;85(5):557-62. [Medline].

  14. Swift M, Reitnauer PJ, Morrell D, et al. Breast and other cancers in families with ataxia-telangiectasia. N Engl J Med. May 21 1987;316(21):1289-94. [Medline].

  15. Tadjoedin MK, et al. Hereditary of Ataxia-Telangiectasia (Louis-Bar Syndrome). Amer J Dis Child. July 1965;110.

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Further Reading

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Keywords

ataxia-telangiectasia, ataxia telangiectasia, AT, A-T, Louis-Bar syndrome, Boder-Sedgwick syndrome, cerebellar ataxia, oculocutaneous telangiectasia, respiratory infection, sinus infection

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Contributor Information and Disclosures

Author

Andrew A Dahl, MD, Director of Ophthalmology Teaching, Mid-Hudson Family Practice Institute, The Institute for Family Health; Assistant Professor of Surgery (Ophthalmology), New York College of Medicine
Andrew A Dahl, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Ophthalmology, American College of Surgeons, American Medical Association, American Society of Cataract and Refractive Surgery, and Wilderness Medical Society
Disclosure: Nothing to disclose.

Coauthor(s)

Diego Calonje, MD, Consulting Staff, Department of Ophthalmology, Private Practice
Disclosure: Nothing to disclose.

Sherif M El-Harazi, MD, MPH, Consulting Staff, Department of Ophthalmology, Sherif El-Harazi, MD
Sherif M El-Harazi, MD, MPH is a member of the following medical societies: American Academy of Ophthalmology, American Medical Association, American Society of Cataract and Refractive Surgery, and International Society of Refractive Surgery
Disclosure: Nothing to disclose.

Medical Editor

Gerhard W Cibis, MD, Clinical Professor, Director of Pediatric Ophthalmology Service, Department of Ophthalmology, University of Kansas, Kansas City
Gerhard W Cibis, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for Pediatric Ophthalmology and Strabismus, and American Ophthalmological Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

J James Rowsey, MD, Former Director of Corneal Services, St Luke's Cataract and Laser Institute, Florida
J James Rowsey, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for the Advancement of Science, American Medical Association, Association for Research in Vision and Ophthalmology, Florida Medical Association, Pan-American Association of Ophthalmology, Sigma Xi, and Southern Medical Association
Disclosure: Nothing to disclose.

CME Editor

Lance L Brown, OD, MD, Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri
Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy Sr, MD, Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences
Hampton Roy Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, and Pan-American Association of Ophthalmology
Disclosure: Nothing to disclose.

 
 
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